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Pompe disease
The Pompe disease, also known as type II glycogen storage disease, is an autosomal recessive metabolic disorder that particularly affects muscle tissue and nerve cells. This disease leads to the pathological accumulation of glycogen in the lysosomes, caused by the low activity of the lysosomal acid α-glucosidase enzyme. As a result of Pompe disease, cells are unable to properly break down glycogen, which affects the functioning of various organs. Lysosomes are specialized membrane-bound vesicles found in living cells that contain various enzymes. These enzymes are responsible for the breakdown of different molecules, including lipids, carbohydrates, proteins, and nucleic acids. Due to their acidic environment, lysosomes can effectively carry out degradation…
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Fabry disease
The Fabry syndrome is an inherited genetic disorder that significantly impacts the quality of life of patients. This condition was first described by a German physician, Johannes Fabry. The underlying pathological process of the disease is due to the deficiency of an important enzyme, alpha-galactosidase. As a result, globotriaosylceramide (GL-3) accumulates in the cells, particularly in the lysosomes, leading to various organ damage. Diagnosis The diagnosis of Fabry syndrome is not always straightforward, especially when classic symptoms do not manifest immediately. Early detection is crucial for successful treatment. Due to the various manifestations of the disease, patients’ anxieties and symptoms encompass a wide spectrum, posing additional challenges during diagnosis. Genetic…
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My Son Has Leiden Mutation – A Response from the Doctor
A thrombosis, or the formation of blood clots, can cause serious health problems and affects not only the older population. Nowadays, more and more young people are facing this danger. The blood coagulation system is influenced by numerous factors, many of which can be traced back to hereditary predisposition. Genetic mutations, such as the Leiden mutation, play a significant role in the occurrence of thrombosis, and it is important for patients to be aware of them in order to choose the appropriate treatment methods. The development of thrombosis is not just an age-related disease, as young people can also be affected. When the regulation of blood coagulation is disrupted, the…
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SMA: Life with a Genetic Disorder
Erdős Ákos’s story can be inspiring for many families, especially those facing similar challenges. SMA, or spinal muscular atrophy, is a rare but severe genetic disorder that significantly affects children’s motor development. Recognizing the disease and seeking appropriate treatment is crucial, as early diagnosis and intervention can help improve the quality of life for children. In Ákos’s case, the early delay in motor development alerted his parents to the problem, prompting them to seek a diagnosis. The assistance of physiotherapists and specialists was essential in establishing the correct diagnosis, enabling them to pursue the appropriate treatments. The solidarity of the SMA community and the sharing of experiences provided further support…
